Art

J-GLOBAL ID：200902176413117723   Reference number：00A0193315

Dissimilar Clinical Phenotypes Associated with Distinct Mutations at nt 8993 of Mitochondrial DNA in Two Patients with Leigh Syndrome.

ミトコンドリアDNA塩基番号8993の一塩基置換の相違により異なる臨床経過を呈したと考えられたLeigh脳症の2例

Author (6)： SAITO SHIGEKO (自治医大) ,  MOMOI MARIKO (自治医大) ,  NAKAMURA MIKI (自治医大) ,  NAKASHIMA NAOMI (自治医大) ,  ICHIHASHI KO (自治医大) ,  MIZUGUCHI MASASHI (自治医大)
Material： 日本小児科学会雑誌  (Journal of the Japan Pediatric Association)
Volume： 104  Issue： 1  Page： 52-55  Publication year： Jan. 01, 2000 
JST Material Number： F0896A  ISSN： 0001-6543  CODEN： NIPOA  Document type： Article
Article type： 短報  Country of issue： Japan (JPN)  Language： JAPANESE (JA)

Thesaurus term： human(primates) ,...
Semi thesaurus term： Leigh脳症 ,...

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JST classification (1)： Nervous system diseases  (GN03000O)

Reference (12)：

• SHOFFNER, J. M. Oxidative phosphorylation diseases. The Metabolic and Molecular bases of Inherited Disease. 1995, 1566-1569
• TATUCH, Y. Heteroplasmic mtDNA mutation (T・・・G) at 8993 can cause Leight disease when the percentage of abnormal mtDNA in high. Am J Hum Genet. 1992, 50, 852-858
• DE-VRIES, D. D. A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. Ann Neurol. 1993, 34, 410-412
• CAMPOS, Y. Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA. Neurology. 1997, 49, 595-597
• KOBAYASHI, Y. The mutant mitochondrial genes in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) were selectively amplified through generations. J Inherit Metab Dis. 1992, 15, 803-808

Terms in the title (7)： ミトコンドリアDNA ,  塩基 ,  番号 ,  一塩基置換 ,  相違 ,  臨床経過 ,  Leigh脳症